Focal dermal hypoplasia (Goltz Syndrome): A preterm neonate with multisystem anomalies-A case report

Abstract

Goltz syndrome is a rare condition characterized by thinning of the skin, which leads to the herniation of fat and results in both skin and systemic abnormalities. The primary cause of this syndrome is the mutation of the PORCN gene, which is associated with the X chromosome. A newborn baby was admitted to the neonatal intensive care unit due to skeletal and skin abnormalities. The major findings in this patient included anophthalmia, microform cleft lip, subcutaneous fat herniation, and split foot. An abdominal ultrasound examination revealed a solitary right kidney and an echocardiogram showed patent ductus arteriosus. The patient was treated for neonatal sepsis, and the family received counseling about the disease. We report this case because of its exceptional rarity.

Keywords: Focal dermal hypoplasia; fat herniation; solitary kidney; split foot.

Figure 1.

Anophthalmia of the left eye, microform cleft lip, subcutaneous fat herniation of the skin, split foot, and clinodactyly of the right index toe.

Figure 2.

A 3 × 4 cm abdominal wall defect (omphalocele).

Figure 3.

Erythematous atrophic skin ulceration with crusted edges.